بررسي پلي مورفيسم ژنتيكي ناحيه ي بالادستي ژن هاي NFATc1 وSmad6 در بيماران مبتلا به پرولاپس دريچه ي ميترال، مراجعه كننده به مركز قلب تهران

Study of genetic polymorphism in promoter region of NFATc1 and Smad6 in patients affected by Mitral Valve Prolapse registered to the Tehran Heart Center

نقص دريچه هاي قلبي، 25 الي 30 درصد موارد اختلالات قلبي - عروقي را به خود اختصاص مي دهد. پرولاپس دريچه ميترال يكي از رايج ترين اختلالات دريچه اي محسوب مي شود كه شيوع آن در جهان 4/2 درصد است. فهم اساس ژنتيكي پرولاپس دريچه ميترال مي تواند به تشخيص زودهنگام آن كمك نمايد. ژن هاي NFATc1 و Smad6 به تازگي به فهرست ژن هاي دخيل در بروز اختلالات قلبي مادرزادي اضافه شده اند و از فاكتورهاي نسخه برداري بسيار مهم در مراحل سلولي تكوين دريچه هاي قلب محسوب مي شوند. هدف از اين پژوهش، مطالعه نواحي بالادستي ژن هاي NFATc1 و Smad6 و ارتباط احتمالي پلي مورفيسم آن با پرولاپس دريچه ميترال در بيماران ايراني است.

Prevalence of heart valve defects about 25 to 30% in cardiovascular disorders. Mitral valve prolapse is one of the most common valve disorders that it′s prevalence about 4.2% in world population. Understanding the genetic basis of MVP can help to early diagnosis of it. Recently Smad6 and NFATc1 genes added to the list of genes which are involved in congenital heart disease and are very important genes interfering in valve cellular development. The aim of this research is to Study the upstream of Smad6 and NFATc1 genes polymorphism and correlation of it with Mitral Valve Prolapse in Iranian patients. After careful counseling and informed consent، peripheral blood samples were taken from 30 patients and 10 controls، and total DNA was extracted from white blood cells. Promoter regions of Smad6 and NFATc1 were amplified by standard PCR. PCR products were screened by Single Strand Conformation Polymorphism (SSCP) analysis. In this study we didn’t found any polymorphism in upstream region of Smad6 and NFATc1 genes in 25-50 old years Iranian patients with Mitral Valve Prolapse. Association between genetic polymorphism in promoter regions of Smad6 and NFATc1 genes and MVP is unknown and need to more study. Functional polymorphisms in this region may interfere with life and we propose study on neonates. A correlation between polymorphism in control region of these genes with childhood types of Mitral valve prolapsed is expected.